Research & Literature

Signet ring cell carcinoma of the non-ampullary duodenum: A case report.

Mochizuki K, Kondo T, Tahara I, et al.

Pathology, research and practice 2015; (211(10)):801-4.

Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.

Huynh JM, Laukaitis CM

Molecular genetics & genomic medicine 2016; (4(2)):232-6 doi:10.1002/mgg3.197.

Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients.

Strong VE, Gholami S, Shah MA, et al.

Annals of surgery 2017; (266(6)):1006-1012 doi:10.1097/SLA.0000000000002030.

Risk factors for severe weight loss at 1 month after gastrectomy for gastric cancer.

Segami K, Aoyama T, Kano K, et al.

Asian journal of surgery 2018; (41(4)):349-355 doi:10.1016/j.asjsur.2017.02.005.

Early relapses after adjuvant chemotherapy suggests primary chemoresistance in diffuse gastric cancer.

Pattison S, Mitchell C, Lade S, et al.

PloS one 2017; (12(9)):e0183891 doi:10.1371/journal.pone.0183891.

Outcomes after prophylactic gastrectomy for hereditary diffuse gastric cancer.

van der Kaaij RT, van Kessel JP, van Dieren JM, et al.

The British journal of surgery 2018; (105(2)):e176-e182 doi:10.1002/bjs.10754.

Prognosis and outcome in CDH1-mutant lobular breast cancer.

Corso G, Veronesi P, Sacchini V, Galimberti V

European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2018; (27(3)):237-238 doi:10.1097/CEJ.0000000000000405.

Safety and efficacy of pasireotide in dumping syndrome-results from a phase 2, multicentre study.

Tack J, Aberle J, Arts J, et al.

Alimentary pharmacology & therapeutics 2018; (47(12)):1661-1672 doi:10.1111/apt.14664.

Efficacy of Long-Term Oral Vitamin B12 Supplementation after Total Gastrectomy: Results from a Prospective Study.

Moleiro J, Mão de Ferro S, Ferreira S, et al.

GE Portuguese journal of gastroenterology 2018; (25(3)):117-122 doi:10.1159/000481860.

αE-catenin is a candidate tumor suppressor for the development of E-cadherin-expressing lobular-type breast cancer.

de Groot JS, Ratze MA, van Amersfoort M, et al.

The Journal of pathology 2018; (245(4)):456-467 doi:10.1002/path.5099.

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.

Corso G, Figueiredo J, La Vecchia C, et al.

Journal of medical genetics 2018; (55(7)):431-441 doi:10.1136/jmedgenet-2018-105337.

Therapeutic and prophylactic gastrectomy in a family with hereditary diffuse gastric cancer secondary to a CDH1 mutation: a case series.

Gjyshi O, Vashi P, Seewald L, et al.

World journal of surgical oncology 2018; (16(1)):143 doi:10.1186/s12957-018-1415-5.

Pathological features of total gastrectomy specimens from asymptomatic hereditary diffuse gastric cancer patients and implications for clinical management.

Rocha JP, Gullo I, Wen X, et al.

Histopathology 2018; (73(6)):878-886 doi:10.1111/his.13715.

Pancreatic Exocrine Tissue Architecture and Integrity are Maintained by E-cadherin During Postnatal Development.

Serrill JD, Sander M, Shih HP

Scientific reports 2018; (8(1)):13451 doi:10.1038/s41598-018-31603-2.

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.

Obermair F, Rammer M, Burghofer J, et al.

Familial cancer 2019; (18(2)):253-260 doi:10.1007/s10689-018-0111-5.

Papillary atrophy of the tongue.

Niimi N, Mori N

Clinical case reports 2018; (6(11)):2283-2284 doi:10.1002/ccr3.1808.

Pregnancy, delivery, and breastfeeding after total gastrectomy for gastric cancer: a case report.

Higashizono K, Nomura S, Yagi K, et al.

World journal of surgical oncology 2018; (16(1)):229 doi:10.1186/s12957-018-1531-2.

CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment.

Luo W, Fedda F, Lynch P, Tan D

Frontiers in pharmacology 2018; (9()):1421 doi:10.3389/fphar.2018.01421.

Multidisciplinary management of CDH1 germinal mutation and prophylactic management hereditary lobular breast cancer: A case report.

Mirandola S, Pellini F, Granuzzo E, et al.

International journal of surgery case reports 2019; (58()):92-95 doi:10.1016/j.ijscr.2019.03.053.

Endoscopic Ultrasound Has Limited Utility in Diagnosis of Gastric Cancer in Carriers of CDH1 Mutations.

Kumar S, Katona BW, Long JM, et al.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2020; (18(2)):505-508.e1 doi:10.1016/j.cgh.2019.04.064.

Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers.

Roberts ME, Ranola JMO, Marshall ML, et al.

JAMA oncology 2019; (5(9)):1325-1331 doi:10.1001/jamaoncol.2019.1208.

Gastric Emptying and Distal Gastrectomy Independently Enhance Postprandial Glucagon-Like Peptide-1 Release After a Mixed Meal and Improve Glycemic Control in Subjects Having Undergone Pancreaticoduodenectomy.

Steiner E, Breuer R, Kazianka L, et al.

Pancreas 2019; (48(7)):953-957 doi:10.1097/MPA.0000000000001361.

Gastroparesis and Dumping Syndrome: Current Concepts and Management.

Vavricka SR, Greuter T

Journal of clinical medicine 2019; (8(8)) doi:10.3390/jcm8081127.

Increased Risk of Osteoporotic Fracture in Postgastrectomy Gastric Cancer Survivors Compared With Matched Controls: A Nationwide Cohort Study in Korea.

Shin DW, Suh B, Lim H, et al.

The American journal of gastroenterology 2019; (114(11)):1735-1743 doi:10.14309/ajg.0000000000000436.

Random biopsies in patients harboring a CDH1 mutation: time to change the approach?

Castro R, Lobo J, Pita I, et al.

Revista espanola de enfermedades digestivas 2020; (112(5)):367-372 doi:10.17235/reed.2020.6720/2019.

Inherited CDH1 pathogenic variant: is there a place for surveillance of esophageal gastric inlet patch?

Leclercq P, Jadot V, Bours V, et al.

Therapeutic advances in gastroenterology 2020; (13()):1756284820916399 doi:10.1177/1756284820916399.

Hereditary diffuse gastric cancer: updated clinical practice guidelines.

Blair VR, McLeod M, Carneiro F, et al.

The Lancet. Oncology 2020; (21(8)):e386-e397 doi:10.1016/S1470-2045(20)30219-9.

Overview on new progress of hereditary diffuse gastric cancer with CDH1 variants.

Hu MN, Hu SH, Zhang XW, et al.

Tumori 2020; (106(5)):346-355 doi:10.1177/0300891620949668.

First report of a Mexican family with mutation in the CDH1 gene.

Martínez Valenzuela C, Castelán-Maldonado EE, Carvajal-Zarrabal O, Calderón-Garcidueñas AL

Molecular genetics & genomic medicine 2020; (8(11)):e1208 doi:10.1002/mgg3.1208.

Significance of E-cadherin Gene Mutations in Patients With Hereditary Diffuse Gastric Cancer Syndrome: A Systematic Review.

Goud HK, Mehkari Z, Mohammed L, et al.

Cureus 2020; (12(9)):e10406 doi:10.7759/cureus.10406.

The metastatic pattern of intestinal and diffuse type gastric carcinoma - A Dutch national cohort study.

Koemans WJ, Luijten JCHBM, van der Kaaij RT, et al.

Cancer epidemiology 2020; (69()):101846 doi:10.1016/j.canep.2020.101846.

Enhanced endoscopic detection of occult gastric cancer in carriers of pathogenic CDH1 variants.

Curtin BF, Gamble LA, Schueler SA, et al.

Journal of gastroenterology 2021; (56(2)):139-146 doi:10.1007/s00535-020-01749-w.

Case series of three patients with hereditary diffuse gastric cancer in a single family: Three case reports and review of literature.

Hirakawa M, Takada K, Sato M, et al.

World journal of gastroenterology 2020; (26(42)):6689-6697 doi:10.3748/wjg.v26.i42.6689.

Recent advances in the pathology of heritable gastric cancer syndromes.

Gullo I, van der Post RS, Carneiro F

Histopathology 2021; (78(1)):125-147 doi:10.1111/his.14228.

Hereditary Diffuse Gastric Cancer Syndrome and the Role of CDH1: A Review.

Gamble LA, Heller T, Davis JL

JAMA surgery 2021; (156(4)):387-392 doi:10.1001/jamasurg.2020.6155.

Anti-fibrotic properties of an adiponectin paralog protein, C1q/TNF-related protein 6 (CTRP6), in diffuse gastric adenocarcinoma.

Iwata Y, Yasufuku I, Saigo C, et al.

Journal of Cancer 2021; (12(4)):1161-1168 doi:10.7150/jca.46765.

Deep learning for computer-assisted diagnosis of hereditary diffuse gastric cancer.

Rasmussen SA, Arnason T, Huang WY

Journal of pathology and translational medicine 2021; (55(2)):118-124 doi:10.4132/jptm.2020.12.22.

CDH1 variants leading to gastric cancer risk management decision-making experiences in emerging adults: 'I am not ready yet'.

Liu Y, Calzone K, Fasaye GA, Quillin J

Journal of genetic counseling 2021; (30(4)):1091-1104 doi:10.1002/jgc4.1393.

CDH1 Gene Mutation Hereditary Diffuse Gastric Cancer Outcomes: Analysis of a Large Cohort, Systematic Review of Endoscopic Surveillance, and Secondary Cancer Risk Postulation.

Benesch MGK, Bursey SR, O'Connell AC, et al.

Cancers 2021; (13(11)) doi:10.3390/cancers13112622.

Laparoscopic Prophylactic Total Gastrectomy for Hereditary Diffuse Gastric Cancer in CDH1 Mutation Carriers.

Ithurralde-Argerich J, Rosner L, Rizzolo M, et al.

Journal of laparoendoscopic & advanced surgical techniques. Part A 2021; (31(7)):729-737 doi:10.1089/lap.2021.0239.

Cancer predisposition and germline CTNNA1 variants.

Lobo S, Benusiglio PR, Coulet F, et al.

European journal of medical genetics 2021; (64(10)):104316 doi:10.1016/j.ejmg.2021.104316.

Surveillance and Surgical Considerations in Hereditary Diffuse Gastric Cancer.

Gamble LA, Davis JL

Gastrointestinal endoscopy clinics of North America 2022; (32(1)):163-175 doi:10.1016/j.giec.2021.08.009.

Emerging Adults Carrying a CDH1 Pathogenic or Likely Pathogenic Variant Face Diet and Lifestyle Challenges after Total Gastrectomy.

Liu Y, Lopez R

Journal of the Academy of Nutrition and Dietetics 2022; (122(5)):913-917 doi:10.1016/j.jand.2021.12.012.

A Case of Primary Signet-Ring Cell Cervical Carcinoma Treated with Chemoradiation, Brachytherapy, and Adjuvant Hysterectomy.

Salmen N, LaBella D, Strumpf K, et al.

Case reports in obstetrics and gynecology 2021; (2021()):5544015 doi:10.1155/2021/5544015.

Associations of centralization with health care quality for gastric cancer patients receiving gastrectomy in China.

Ji J, Shi L, Ying X, et al.

Chinese journal of cancer research = Chung-kuo yen cheng yen chiu 2021; (33(6)):659-670 doi:10.21147/j.issn.1000-9604.2021.06.03.

CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma.

Ben Aissa-Haj J, Kabbage M, Othmen H, et al.

Genes 2022; (13(3)) doi:10.3390/genes13030400.

Hereditary Diffuse Gastric Cancer-Update Based on the Current Consort Recommendations.

Treese C, Siegmund B, Daum S

Current oncology (Toronto, Ont.) 2022; (29(4)):2454-2460 doi:10.3390/curroncol29040199.

Myosin V facilitates polarised E-cadherin secretion.

Tanasic D, Berns N, Riechmann V

Traffic (Copenhagen, Denmark) 2022; (23(7)):374-390 doi:10.1111/tra.12846.

International Delphi consensus guidelines for follow-up after prophylactic total gastrectomy: the Life after Prophylactic Total Gastrectomy (LAP-TG) study.

Roberts G, Benusiglio PR, Bisseling T, et al.

Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 2022; (25(6)):1094-1104 doi:10.1007/s10120-022-01318-5.

Becoming and being a parent with an inherited predisposition to diffuse gastric cancer: A qualitative study of young adults with a CDH1 pathogenic variant.

Tutty E, Forbes Shepherd R, Hoskins C, et al.

Journal of psychosocial oncology 2023; (41(3)):286-302 doi:10.1080/07347332.2022.2104676.

Endoscopic surveillance with systematic random biopsy for the early diagnosis of hereditary diffuse gastric cancer: a prospective 16-year longitudinal cohort study.

Lee CYC, Olivier A, Honing J, et al.

The Lancet. Oncology 2023; (24(1)):107-116 doi:10.1016/S1470-2045(22)00700-8.

Hereditary diffuse gastric cancer in a Japanese family with CDH1 mutation three case reports.

Muranaka F, Kise E, Tokumaru S, et al.

Discover oncology 2023; (14(1)):14 doi:10.1007/s12672-023-00623-4.

A Case of Late Dumping Syndrome in a Post-bariatric Pregnant Lady Seen in a Primary Care Clinic.

Voon Son W, Ganason AS, Kang WH

Cureus 2023; (15(2)):e34926 doi:10.7759/cureus.34926.

Unique challenges of risk-reducing surgery for hereditary diffuse gastric cancer syndrome: a narrative review.

Gallanis AF, Davis JL

European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2023; (32(4)):391-395 doi:10.1097/CEJ.0000000000000798.

Factors associated with detection of hereditary diffuse gastric cancer on endoscopy in individuals with germline CDH1 mutations.

Laszkowska M, Tang L, Vos E, et al.

Gastrointestinal endoscopy 2023; (98(3)):326-336.e3 doi:10.1016/j.gie.2023.04.2071.

Spasmolytic polypeptide-expressing metaplasia (SPEM) cell lineages can be an origin of gastric cancer.

Goldenring JR

The Journal of pathology 2023; (260(2)):109-111 doi:10.1002/path.6089.

CDH1 and hereditary diffuse gastric cancer: a narrative review.

Gregory SN, Davis JL

Chinese clinical oncology 2023; (12(3)):25 doi:10.21037/cco-23-36.

A Delayed Presentation of Late Dumping Syndrome After Ivor Lewis Procedure.

Wong M, Gome JJ, Dreyer R

Cureus 2023; (15(6)):e40877 doi:10.7759/cureus.40877.

Vitamin B12 deficiency after total gastrectomy for gastric cancer, prevalence, and symptoms: a systematic review and meta-analysis.

Bahardoust M, Mousavi S, Ziafati H, et al.

European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2024; (33(3)):208-216 doi:10.1097/CEJ.0000000000000838.

Pioneering use of genetic analysis for CDH1 to identify candidates for prophylactic total gastrectomy to prevent hereditary diffuse gastric cancer.

Mokhtari-Esbuie F, Szeglin B, Ravari MR, et al.

eGastroenterology 2023; (1(2)) doi:10.1136/egastro-2023-100017.

E-cadherin loss drives diffuse-type gastric tumorigenesis via EZH2-mediated reprogramming.

Zou G, Huang Y, Zhang S, et al.

The Journal of experimental medicine 2024; (221(4)) doi:10.1084/jem.20230561.

E-cadherin variants associated with oral facial clefts trigger aberrant cell motility in a REG1A-dependent manner.

Pereira J, Melo S, Ferreira RM, et al.

Cell communication and signaling : CCS 2024; (22(1)):152 doi:10.1186/s12964-024-01532-x.

CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions.

Herrera-Pariente C, Bonjoch L, Muñoz J, et al.

Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 2024; (27(4)):747-759 doi:10.1007/s10120-024-01504-7.

Colonic Metastasis in a Patient With Hereditary Diffuse Gastric Cancer: A Case Report.

John S, Cantu Lopez C, Herrera-Gonzalez S, Bains Y

Cureus 2024; (16(5)):e59483 doi:10.7759/cureus.59483.

Nutritional Experiences of Patients Undergoing Total Gastrectomy Surgery: A Qualitative Study.

Şayır D, Karacabay K

Gastroenterology nursing : the official journal of the Society of Gastroenterology Nurses and Associates 2024; (47(3)):203-212 doi:10.1097/SGA.0000000000000800.

Germline CDH1 Variants and Lifetime Cancer Risk.

Ryan CE, Fasaye GA, Gallanis AF, et al.

JAMA 2024; (332(9)):722-729 doi:10.1001/jama.2024.10852.

A Systematic Review of Surgical and Pathological Outcomes in Patients With a CDH1 Mutation Undergoing Total Gastrectomy.

Khiabany A, Dermanis AA, Liew MS, et al.

Journal of surgical oncology 2024; (130(8)):1539-1550 doi:10.1002/jso.27855.

Molecular evolution of intestinal-type early gastric cancer according to Correa cascade.

Li F, Wang Y, Ping X, et al.

Journal of biomedical research 2024; (39(3)):270-285 doi:10.7555/JBR.38.20240118.

Lessons learned from 150 total gastrectomies for prevention of cancer.

Gallanis AF, Bowden C, Lopez R, et al.

Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract 2025; (29(1)):101889 doi:10.1016/j.gassur.2024.101889.

Nutritional status and related factors in gastric cancer patients after gastrectomy: a cross-sectional study.

Muszyński T, Jędrychowski T, Witalewska A, et al.

Polski przeglad chirurgiczny 2024; (97(2)):1-10 doi:10.5604/01.3001.0054.8165.

The Psychological Impact of Prophylactic Total Gastrectomy in Patients Who Are High Risk for Hereditary Diffuse Gastric Cancer: A Review of the Literature.

Hayat MY, Yakubu U, Jayasinghe J, Patel B

Cureus 2025; (17(5)):e84751 doi:10.7759/cureus.84751.

A Comprehensive Literature Review of the CDH1 Mutation and Its Role in Gastric Cancer.

Samardali M, Samardaly J, Shanti I

Cureus 2025; (17(5)):e85072 doi:10.7759/cureus.85072.

Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls.

Lobo S, Dias A, Pedro AM, et al.

Gut 2026; (75(5)):872-885 doi:10.1136/gutjnl-2024-334601.

Conditional Relative Survival Among Patients With Gastric Cancer Undergoing Surgery: A Hospital-Based Cohort Study.

Park H, Cho YS, Park DJ, et al.

Journal of gastric cancer 2025; (25(4)):581-592 doi:10.5230/jgc.2025.25.e45.

Dental agenesis as a novel phenotypical feature associated with hereditary diffuse gastric cancer in China.

Wang Z, Ding Q, Xu J, et al.

Journal of medical genetics 2025; doi:10.1136/jmg-2025-111081.

Psychosocial Impacts of Prophylactic Total Gastrectomy for Hereditary Diffuse Gastric Cancer: A Narrative Review.

Kearns O, Snyder D, Davis J, et al.

Psycho-oncology 2025; (34(10)):e70304 doi:10.1002/pon.70304.

[Diagnosis of osteoporosis-importance of dual-energy X-ray absorptiometry].

Genest F, Seefried L

Zeitschrift fur Rheumatologie 2025; (84(10)):811-820 doi:10.1007/s00393-025-01744-7.

Nutritional approach to dumping syndrome.

Scarpellini E, Siquini W

Best practice & research. Clinical gastroenterology 2025; (79()):102075 doi:10.1016/j.bpg.2025.102075.

Risk Factors for Body Weight Loss After Gastrectomy for Gastric Cancer Analyzed From the JCOG1001 Phase III Trial.

Yamada T, Kurokawa Y, Mizusawa J, et al.

Annals of gastroenterological surgery 2026; (10(2)):452-459 doi:10.1002/ags3.70123.